MCID: BNS001
MIFTS: 42

Bone Osteosarcoma

Categories: Bone diseases, Cancer diseases
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Aliases & Classifications for Bone Osteosarcoma

MalaCards integrated aliases for Bone Osteosarcoma:

Name: Bone Osteosarcoma 11 28 5 14
Osteosarcoma of Bone 11 71
Primary Osteosarcoma of Bone 11

Classifications:



External Ids:

Disease Ontology 11 DOID:3376
NCIt 49 C53707
SNOMED-CT 68 307576001
UMLS 71 C0585442

Summaries for Bone Osteosarcoma

MalaCards based summary: Bone Osteosarcoma, also known as osteosarcoma of bone, is related to conventional osteosarcoma and osteogenic sarcoma. An important gene associated with Bone Osteosarcoma is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cellular Senescence. Affiliated tissues include bone, breast and lung, and related phenotypes are neoplasm and muscle

Related Diseases for Bone Osteosarcoma

Diseases related to Bone Osteosarcoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 235)
# Related Disease Score Top Affiliating Genes
1 conventional osteosarcoma 31.8 USP6 SATB2 MIR133A1 MDM2 EWSR1 DUX4L7
2 osteogenic sarcoma 31.2 TP53 RB1 MDM2 CHEK2 CDK4 ATRX
3 sarcoma 30.7 TP53 RB1 MDM2 EWSR1 CHEK2 CDK4
4 askin's tumor 30.5 EWSR1 CD99 CCNB3
5 small cell osteogenic sarcoma 30.5 SATB2 EWSR1 DUX4L7 DUX4L1 DUX4 CREB3L1
6 parosteal osteosarcoma 30.4 SATB2 MDM2 EWSR1 COPS3 CDK4
7 bone giant cell tumor 30.4 USP6 SATB2 H2AC18
8 fibrosarcomatous osteosarcoma 30.3 SATB2 MDM2
9 ewing sarcoma 30.1 TP53 RB1 MDM2 H2AC18 EWSR1 DUX4L7
10 primary bone cancer 11.1
11 high-grade astrocytoma 10.5 TP53 ATRX
12 kidney liposarcoma 10.5 MDM2 CDK4
13 lung oat cell carcinoma 10.5 TP53 RB1 AKT1
14 familial ovarian cancer 10.5 TP53 CHEK2
15 localized osteosarcoma 10.5 TP53 EWSR1 AKT1
16 ovarian clear cell adenocarcinoma 10.5 TP53 H2AC18 CHEK2
17 hypertrophy of breast 10.5 TP53 CHEK2 AKT1
18 mediastinum liposarcoma 10.5 MDM2 CDK4
19 anogenital venereal wart 10.5 TP53 RB1 H2AC18
20 mixed liposarcoma 10.5 TP53 MDM2 CDK4
21 histone mutated tumor 10.5 TP53 H2AC18 ATRX
22 diffuse astrocytoma 10.5 TP53 H2AC18 ATRX
23 estrogen-receptor negative breast cancer 10.5 TP53 H2AC18 AKT1
24 diffuse midline glioma, h3 k27m-mutant 10.5 TP53 H2AC18 ATRX
25 central nervous system primitive neuroectodermal neoplasm 10.5 TP53 EWSR1 CD99
26 clear cell chondrosarcoma 10.5 USP6 H2AC18 EWSR1
27 lung adenoma 10.5 TP53 H2AC18 AKT1
28 pleomorphic lipoma 10.5 MDM2 EWSR1 CDK4
29 periosteal osteogenic sarcoma 10.5 USP6 SATB2 MDM2
30 supratentorial cancer 10.5 TP53 H2AC18 ATRX
31 sporadic breast cancer 10.5 TP53 H2AC18 CHEK2
32 esophagus verrucous carcinoma 10.5 TP53 MDM2
33 extraosseous ewings sarcoma-primitive neuroepithelial tumor 10.5 EWSR1 CD99
34 respiratory system benign neoplasm 10.5 TP53 H2AC18 AKT1
35 anus cancer 10.5 TP53 RB1 H2AC18 AKT1
36 childhood liposarcoma 10.5 MDM2 CDK4
37 uterine body mixed cancer 10.5 TP53 H2AC18 AKT1
38 anus disease 10.5 TP53 H2AC18 AKT1
39 ovarian clear cell carcinoma 10.5 TP53 H2AC18 AKT1
40 childhood osteosarcoma 10.5 TP53 EWSR1 ATRX AKT1
41 spindle cell liposarcoma 10.5 MDM2 CREB3L1 CDK4
42 endocervical carcinoma 10.5 TP53 H2AC18 AKT1
43 kidney sarcoma 10.5 SATB2 EWSR1 CCNB3
44 extraosseous osteosarcoma 10.5 SATB2 MDM2 CDK4
45 cellular myxoid liposarcoma 10.5 MDM2 EWSR1 CDK4
46 telangiectasis 10.5 TP53 H2AC18 CHEK2
47 tonsil cancer 10.5 TP53 H2AC18 EWSR1 AKT1
48 telangiectatic osteogenic sarcoma 10.5 USP6 MDM2 COPS3
49 rhabdoid cancer 10.5 TP53 H2AC18 EWSR1
50 kidney fibrosarcoma 10.5 EWSR1 CREB3L1 CD99

Graphical network of the top 20 diseases related to Bone Osteosarcoma:



Diseases related to Bone Osteosarcoma

Symptoms & Phenotypes for Bone Osteosarcoma

MGI Mouse Phenotypes related to Bone Osteosarcoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.87 AKT1 CDK4 CHEK2 EWSR1 MDM2 RB1
2 muscle MP:0005369 9.86 AKT1 CDK4 EWSR1 MDM2 MIR133A1 NKX3-2
3 embryo MP:0005380 9.81 AKT1 ATRX CDK4 COPS3 MDM2 NKX3-2
4 cellular MP:0005384 9.77 AKT1 ATRX CCNB3 CDK4 CHEK2 CREB3L1
5 reproductive system MP:0005389 9.32 AKT1 ATRX CCNB3 CDK4 CHEK2 EWSR1

Drugs & Therapeutics for Bone Osteosarcoma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 PNA-mediated Inhibition of the SENP1 Molecular Hub as a Potential Therapeutic Approach for the Suppression of Osteosarcoma Growth and Metastasis (PNA-OS) Unknown status NCT03798587
2 Registry For Children, Adolescents And Adults With Osteosarcoma And Biologically Related Bone Sarcomas (COSS-Registry) Not yet recruiting NCT05515068

Search NIH Clinical Center for Bone Osteosarcoma

Genetic Tests for Bone Osteosarcoma

Genetic tests related to Bone Osteosarcoma:

# Genetic test Affiliating Genes
1 Bone Osteosarcoma 28 CHEK2 RB1 TP53

Anatomical Context for Bone Osteosarcoma

Organs/tissues related to Bone Osteosarcoma:

MalaCards : Bone, Breast, Lung, Cortex, Colon, Kidney, Liver

Publications for Bone Osteosarcoma

Articles related to Bone Osteosarcoma:

(show top 50) (show all 176)
# Title Authors PMID Year
1
Cutaneous pleomorphic fibromas arising in patients with germline TP53 mutations. 5
32187703 2020
2
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 5
28492532 2017
3
Molecular Characterization of Somatic Alterations in Dukes' B and C Colorectal Cancers by Targeted Sequencing. 5
28769798 2017
4
Intratumor heterogeneity in hepatocellular carcinoma. 5
25248380 2015
5
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 5
25157968 2014
6
Exomic analysis of myxoid liposarcomas, synovial sarcomas, and osteosarcomas. 5
24190505 2014
7
A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples. 5
21232794 2011
8
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 5
12826609 2003
9
Investigations on a clinically and functionally unusual and novel germline p53 mutation. 5
12085209 2002
10
Mutations of the CHK2 gene are found in some osteosarcomas, but are rare in breast, lung, and ovarian tumors. 5
11746983 2002
11
Effects of p53 mutants derived from lung carcinomas on the p53-responsive element (p53RE) of the MDM2 gene. 5
9472631 1998
12
Screening for TP53 mutations in osteosarcomas using constant denaturant gel electrophoresis (CDGE). 5
8401536 1993
13
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. 5
1565143 1992
14
Limb salvage surgery has a higher complication rate than amputation but is still beneficial for patients younger than 10 years old with osteosarcoma of an extremity. 62
35490054 2022
15
The Influence of Plasma Treatment on the Corrosion and Biocompatibility of Magnesium. 62
36295470 2022
16
Evaluation of Three ISO Estrogen Receptor Transactivation Assays Applied to 52 Domestic Effluent Samples. 62
35876436 2022
17
Zinc substituted hydroxyapatite/silk fiber/methylcellulose nanocomposite for bone tissue engineering applications. 62
35691428 2022
18
From tryptophan to novel mitochondria-disruptive agent, synthesis and biological evaluation of 1,2,3,6-tetrasubstituted carbazoles. 62
35609396 2022
19
Synthesis and Characterization of Tween-20 Capped Biosynthesized Silver Nanoparticles for Anticancer and Antimicrobial Property. 62
35802241 2022
20
A high-grade primary osteosarcoma arising in the splenic flexure of the colon: an extremely rare entity. 62
35175858 2022
21
A predictive model with a risk-classification system for cancer-specific survival in patients with primary osteosarcoma of long bone. 62
35134673 2022
22
Clinical and imaging features of 112 patients with irregular and flat bone osteosarcoma. 62
35284272 2022
23
Facile One-Pot Method for All Aqueous Green Formation of Biocompatible Silk Fibroin-Poly(Ethylene Oxide) Fibers for Use in Tissue Engineering. 62
35232011 2022
24
Prevalence, Distribution, and Histopathological Features of Malignant Tumors Reported at Tertiary Level in Afghanistan: A 3-Year Study. 62
36065259 2022
25
Identification and characterization of aging/senescence-induced genes in osteosarcoma and predicting clinical prognosis. 62
36275664 2022
26
Pervasive cytoquakes in the actomyosin cortex across cell types and substrate stiffness. 62
34875067 2021
27
A Retrospective Comparative Analysis of Outcomes and Prognostic Factors in Adult and Pediatric Patients with Osteosarcoma. 62
34940082 2021
28
The Combination of Amygdalin with Some Anticancer, Antiparasitic, and Antigout Drugs Against MG63, Saos2, SW1353, and FL Cells In Vitro. 62
33733877 2021
29
MVP Expression Facilitates Tumor Cell Proliferation and Migration Supporting the Metastasis of Colorectal Cancer Cells. 62
34829999 2021
30
Co-Axial Gyro-Spinning of PCL/PVA/HA Core-Sheath Fibrous Scaffolds for Bone Tissue Engineering. 62
34310053 2021
31
Diffusion-weighted imaging in differentiating mid-course responders to chemotherapy for long-bone osteosarcoma compared to the histologic response: an update. 62
33877417 2021
32
Delay in diagnosis of primary osteosarcoma of bone in children: Have we improved in the last 15 years and what is the impact of delay on diagnosis? 62
33898215 2021
33
The changing face of central chondrosarcoma of bone. One UK-based orthopaedic oncology unit's experience of 33 years referrals. 62
33747783 2021
34
Primary lung adenocarcinoma in three adolescent patients affected by bone sarcomas. 62
33420836 2021
35
Antibacterial Optimization of Highly Deformed Titanium Alloys for Spinal Implants. 62
34074062 2021
36
Osteogenesis Promotion of Selenium-Doped Hydroxyapatite for Application as Bone Scaffold. 62
32816138 2021
37
Evaluation of cytotoxic activity and anticancer potential of indigenous Rosemary (Rosmarinus officinalis L.) and Oregano (Origanum vulgare L.) dry extracts on MG-63 bone osteosarcoma human cell line. 62
35024741 2021
38
Extraskeletal osteosarcomas: current update. 62
33533642 2021
39
Adjuvant electrochemotherapy after debulking in canine bone osteosarcoma infiltration. 62
32959401 2021
40
GEM-Based Metabolic Profiling for Human Bone Osteosarcoma under Different Glucose and Glutamine Availability. 62
33540580 2021
41
Retrospective investigation of hereditary syndromes in patients with medulloblastoma in a single institution. 62
32930885 2021
42
MsrB1 Promotes Proliferation and Invasion of Colorectal Cancer Cells via GSK-3β/β-catenin Signaling Axis. 62
34719306 2021
43
The roles of metastasis-related proteins in the development of giant cell tumor of bone, osteosarcoma and Ewing's sarcoma. 62
33682749 2021
44
Comparative analysis of the levels of soluble forms of receptor and ligand of the immunity control point PD-1/PD-L1 in the blood serum of patients with typical bone osteosarcoma and chondrosarcoma. 62
33301655 2020
45
3D Printed Calcium Phosphate Cement (CPC) Scaffolds for Anti-Cancer Drug Delivery. 62
33187124 2020
46
GPR120 agonists for the treatment of diabetes: a patent review (2014 present). 62
32799609 2020
47
Virtual organelle self-coding for fluorescence imaging via adversarial learning. 62
32996300 2020
48
Design and synthesis of β-carboline linked aryl sulfonyl piperazine derivatives: DNA topoisomerase II inhibition with DNA binding and apoptosis inducing ability. 62
32683136 2020
49
The sensitivity, specificity, and diagnostic accuracy of whole-bone MRI for identifying skip metastases in appendicular osteosarcoma and Ewing sarcoma. 62
31900513 2020
50
Preparation of a radiobiology beam line at the 18 MeV proton cyclotron facility at CNA. 62
32388466 2020

Variations for Bone Osteosarcoma

ClinVar genetic disease variations for Bone Osteosarcoma:

5 (show top 50) (show all 67)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSC2 NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs) DEL Other
438794 rs1555508929 GRCh37: 16:2126513-2126514
GRCh38: 16:2076512-2076513
2 CHEK2 NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser) SNV Pathogenic
5595 rs137853008 GRCh37: 22:29130661-29130661
GRCh38: 22:28734673-28734673
3 TP53 NM_000546.6(TP53):c.475_481dup (p.Ala161fs) DUP Pathogenic
12380 rs863223301 GRCh37: 17:7578448-7578449
GRCh38: 17:7675130-7675131
4 CHEK2 NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) SNV Pathogenic
5603 rs137853011 GRCh37: 22:29091207-29091207
GRCh38: 22:28695219-28695219
5 ATRX NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) SNV Pathogenic
11728 rs122445099 GRCh37: X:76776310-76776310
GRCh38: X:77520832-77520832
6 CHEK2 NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) SNV Pathogenic
5594 rs17883862 GRCh37: 22:29130456-29130456
GRCh38: 22:28734468-28734468
7 TP53 NM_000546.6(TP53):c.722C>T (p.Ser241Phe) SNV Pathogenic
12359 rs28934573 GRCh37: 17:7577559-7577559
GRCh38: 17:7674241-7674241
8 CHEK2 NM_007194.4(CHEK2):c.1100del (p.Thr367fs) DEL Pathogenic
Pathogenic
128042 rs555607708 GRCh37: 22:29091857-29091857
GRCh38: 22:28695869-28695869
9 TP53 NM_000546.6(TP53):c.818G>A (p.Arg273His) SNV Pathogenic
12366 rs28934576 GRCh37: 17:7577120-7577120
GRCh38: 17:7673802-7673802
10 RB1 NM_000321.3(RB1):c.1215+1G>A SNV Pathogenic
126832 rs587776783 GRCh37: 13:48947629-48947629
GRCh38: 13:48373493-48373493
11 RB1 NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) SNV Pathogenic
13087 rs137853294 GRCh37: 13:49033844-49033844
GRCh38: 13:48459708-48459708
12 TP53 NM_000546.6(TP53):c.743G>A (p.Arg248Gln) SNV Pathogenic
12356 rs11540652 GRCh37: 17:7577538-7577538
GRCh38: 17:7674220-7674220
13 TP53 NM_000546.6(TP53):c.559+1G>A SNV Pathogenic
428908 rs1131691042 GRCh37: 17:7578370-7578370
GRCh38: 17:7675052-7675052
14 TP53 NM_000546.6(TP53):c.524G>A (p.Arg175His) SNV Pathogenic
12374 rs28934578 GRCh37: 17:7578406-7578406
GRCh38: 17:7675088-7675088
15 TP53 NM_000546.6(TP53):c.96+1G>T SNV Pathogenic
482212 rs1131691003 GRCh37: 17:7579699-7579699
GRCh38: 17:7676381-7676381
16 CHEK2 NM_007194.4(CHEK2):c.444+2T>C SNV Pathogenic
422638 rs560596101 GRCh37: 22:29121229-29121229
GRCh38: 22:28725241-28725241
17 CHEK2 NM_007194.4(CHEK2):c.444+1G>A SNV Pathogenic
128075 rs121908698 GRCh37: 22:29121230-29121230
GRCh38: 22:28725242-28725242
18 CHEK2 NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) SNV Pathogenic
439092 rs200917541 GRCh37: 22:29121258-29121258
GRCh38: 22:28725270-28725270
19 CHEK2 NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) SNV Pathogenic
182452 rs730881701 GRCh37: 22:29121266-29121266
GRCh38: 22:28725278-28725278
20 CHEK2 NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) SNV Pathogenic
141381 rs587781705 GRCh37: 22:29130494-29130494
GRCh38: 22:28734506-28734506
21 CHEK2 NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) SNV Likely Pathogenic
5591 rs17879961 GRCh37: 22:29121087-29121087
GRCh38: 22:28725099-28725099
22 TP53 NM_000546.6(TP53):c.799C>T (p.Arg267Trp) SNV Likely Pathogenic
141764 rs55832599 GRCh37: 17:7577139-7577139
GRCh38: 17:7673821-7673821
23 AKT1 NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) SNV Likely Pathogenic
13983 rs121434592 GRCh37: 14:105246551-105246551
GRCh38: 14:104780214-104780214
24 TP53 NM_000546.6(TP53):c.773A>G (p.Glu258Gly) SNV Likely Pathogenic
406590 rs1060501201 GRCh37: 17:7577508-7577508
GRCh38: 17:7674190-7674190
25 CHEK2 NM_007194.4(CHEK2):c.319+2T>A SNV Likely Pathogenic
142352 rs587782401 GRCh37: 22:29130389-29130389
GRCh38: 22:28734401-28734401
26 RB1 NM_000321.3(RB1):c.276T>G (p.Ile92Met) SNV Uncertain Significance
458162 rs1555282772 GRCh37: 13:48916746-48916746
GRCh38: 13:48342610-48342610
27 CHEK2 NM_007194.4(CHEK2):c.1376-13A>G SNV Uncertain Significance
418624 rs1064793330 GRCh37: 22:29090118-29090118
GRCh38: 22:28694130-28694130
28 CHEK2 NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) SNV Uncertain Significance
128054 rs139366548 GRCh37: 22:29091220-29091220
GRCh38: 22:28695232-28695232
29 CHEK2 NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) SNV Uncertain Significance
140938 rs564605612 GRCh37: 22:29090030-29090030
GRCh38: 22:28694042-28694042
30 CHEK2 NM_007194.4(CHEK2):c.556A>C (p.Asn186His) SNV Uncertain Significance
141977 rs146198085 GRCh37: 22:29121001-29121001
GRCh38: 22:28725013-28725013
31 CHEK2 NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) SNV Uncertain Significance
128056 rs200050883 GRCh37: 22:29091178-29091178
GRCh38: 22:28695190-28695190
32 CHEK2 NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) SNV Uncertain Significance
128066 rs587780180 GRCh37: 22:29083961-29083961
GRCh38: 22:28687973-28687973
33 CHEK2 NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) SNV Uncertain Significance
128092 rs587780194 GRCh37: 22:29095854-29095854
GRCh38: 22:28699866-28699866
34 CHEK2 NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) SNV Uncertain Significance
126909 rs121908705 GRCh37: 22:29091154-29091154
GRCh38: 22:28695166-28695166
35 CHEK2 NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) SNV Uncertain Significance
142533 rs587782527 GRCh37: 22:29091741-29091741
GRCh38: 22:28695753-28695753
36 CHEK2 NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) SNV Uncertain Significance
182445 rs730881695 GRCh37: 22:29130540-29130540
GRCh38: 22:28734552-28734552
37 RB1 NM_000321.3(RB1):c.269G>T (p.Gly90Val) SNV Uncertain Significance
458158 rs554727080 GRCh37: 13:48916739-48916739
GRCh38: 13:48342603-48342603
38 RB1 NM_000321.3(RB1):c.752G>A (p.Arg251Gln) SNV Uncertain Significance
575378 rs772678500 GRCh37: 13:48936984-48936984
GRCh38: 13:48362848-48362848
39 RB1 NM_000321.3(RB1):c.850A>G (p.Asn284Asp) SNV Uncertain Significance
458185 rs761609284 GRCh37: 13:48937082-48937082
GRCh38: 13:48362946-48362946
40 TP53 NM_000546.6(TP53):c.466C>T (p.Arg156Cys) SNV Uncertain Significance
127810 rs563378859 GRCh37: 17:7578464-7578464
GRCh38: 17:7675146-7675146
41 TP53 NM_000546.6(TP53):c.461G>A (p.Gly154Asp) SNV Uncertain Significance
237950 rs762846821 GRCh37: 17:7578469-7578469
GRCh38: 17:7675151-7675151
42 CHEK2 NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) SNV Uncertain Significance
141856 rs17882942 GRCh37: 22:29085131-29085131
GRCh38: 22:28689143-28689143
43 CHEK2 NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) SNV Uncertain Significance
128063 rs587780179 GRCh37: 22:29085140-29085140
GRCh38: 22:28689152-28689152
44 CHEK2 NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) SNV Uncertain Significance
142479 rs587782489 GRCh37: 22:29085155-29085155
GRCh38: 22:28689167-28689167
45 CHEK2 NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) SNV Uncertain Significance
128059 rs540635787 GRCh37: 22:29090061-29090061
GRCh38: 22:28694073-28694073
46 CHEK2 NM_007194.4(CHEK2):c.1375+3A>G SNV Uncertain Significance
232607 rs876659868 GRCh37: 22:29091112-29091112
GRCh38: 22:28695124-28695124
47 CHEK2 NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) SNV Uncertain Significance
128050 rs587780171 GRCh37: 22:29091742-29091742
GRCh38: 22:28695754-28695754
48 CHEK2 NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) SNV Uncertain Significance
182435 rs730881690 GRCh37: 22:29091779-29091779
GRCh38: 22:28695791-28695791
49 CHEK2 NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) SNV Uncertain Significance
140959 rs375130261 GRCh37: 22:29091816-29091816
GRCh38: 22:28695828-28695828
50 CHEK2 NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) SNV Uncertain Significance
128046 rs587780167 GRCh37: 22:29091824-29091824
GRCh38: 22:28695836-28695836

Expression for Bone Osteosarcoma

Search GEO for disease gene expression data for Bone Osteosarcoma.

Pathways for Bone Osteosarcoma

Pathways related to Bone Osteosarcoma according to GeneCards Suite gene sharing:

(show all 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 TP53 RB1 MDM2 H2AC18 CHEK2 CDK4
2
Show member pathways
12.69 TP53 RB1 MDM2 H2AC18 CDK4
3
Show member pathways
12.65 TP53 RB1 MDM2 CDK4 AKT1
4
Show member pathways
12.53 CCNB3 CDK4 CHEK2 MDM2 RB1 TP53
5 12.47 TP53 RB1 MDM2 CHEK2 CDK4
6
Show member pathways
12.46 RB1 CDK4 CCNB3 ATRX
7
Show member pathways
12.42 TP53 RB1 MDM2 CDK4 AKT1
8
Show member pathways
12.4 TP53 MDM2 CHEK2 AKT1
9 12.39 TP53 RB1 CDK4 AKT1
10
Show member pathways
12.14 TP53 RB1 MDM2 CREB3L1 CDK4 AKT1
11
Show member pathways
12.08 CCNB3 CDK4 RB1 TP53
12
Show member pathways
12.03 TP53 RB1 MDM2 CHEK2 CDK4 AKT1
13
Show member pathways
11.96 TP53 RB1 MDM2 CREB3L1 CHEK2 CDK4
14 11.91 AKT1 CDK4 CHEK2 MDM2 RB1 TP53
15 11.89 TP53 RB1 MDM2
16 11.87 AKT1 CDK4 RB1 TP53
17
Show member pathways
11.86 TP53 MDM2 CHEK2
18 11.8 TP53 RB1 MDM2 CDK4
19
Show member pathways
11.78 TP53 MDM2 CHEK2 CCNB3
20
Show member pathways
11.77 TP53 RB1 CHEK2
21 11.76 CHEK2 MDM2 TP53
22 11.74 TP53 MDM2 AKT1
23
Show member pathways
11.72 TP53 MDM2 CHEK2 AKT1
24 11.7 TP53 RB1 CDK4 AKT1
25
Show member pathways
11.65 TP53 RB1 MDM2 CHEK2 CDK4 CCNB3
26 11.63 TP53 ATRX AKT1
27 11.61 TP53 RB1 CDK4
28
Show member pathways
11.59 AKT1 MDM2 TP53
29 11.59 AKT1 CDK4 RB1
30 11.56 RB1 MDM2 CDK4
31
Show member pathways
11.54 TP53 MDM2 CHEK2 AKT1
32 11.49 TP53 MDM2 CHEK2 AKT1
33
Show member pathways
11.41 AKT1 CCNB3 CHEK2 TP53
34 11.38 TP53 MDM2 CHEK2 CDK4
35 11.35 RB1 CHEK2 CDK4
36 11.31 TP53 MDM2 AKT1
37 11.31 TP53 RB1 MDM2 CDK4
38 11.29 TP53 MDM2 CHEK2
39 11.19 TP53 RB1 MDM2 CDK4
40 11.09 TP53 RB1 MDM2
41 10.84 RB1 CDK4
42 10.68 TP53 RB1 MDM2 CHEK2 CDK4 AKT1
43 10.62 TP53 AKT1
44 10.57 TP53 RB1
45 10.42 TP53 CHEK2

GO Terms for Bone Osteosarcoma

Cellular components related to Bone Osteosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 PML body GO:0016605 9.23 TP53 RB1 CHEK2 ATRX

Biological processes related to Bone Osteosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to actinomycin D GO:0072717 9.46 TP53 MDM2
2 cellular response to gamma radiation GO:0071480 9.43 TP53 MDM2 CHEK2
3 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.1 TP53 MDM2 CHEK2

Molecular functions related to Bone Osteosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 disordered domain specific binding GO:0097718 9.1 TP53 RB1 MDM2

Sources for Bone Osteosarcoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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